10-Epigenetics Flashcards
1
Q
Rubinstein-Taybi Syndrome (RSTS)
A
Congenital disease that affects brain development
Due to autosomal dominant mutations in gene encoding CBP
Most cases occurs de novo
2
Q
Characteristics of RSTS
A
Short stature
Sever intellectual disability
Distinct facial features
3
Q
Rett Syndrome (RTT)
A
Genetic brain disorder that only appears after 6-18 months in females
4
Q
Symptoms of RTT
A
Reversal in development
Repetitive movement
Slow growth
Seizures, scoliosis
5
Q
Mosaicism and RTT
A
Individual cells within the same person have different genetic makeup
Some X chromosomes have RTT mutation, others don’t
6
Q
Klinefelter Syndrome and RTT
A
Has 2X and 1 Y chromosome
Only 1 X will be active
